Research output per year

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Fingerprint Dive into the research topics where Elena Gardella is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

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Research Output

Expanding the clinical and EEG spectrum of CNKSR2-related encephalopathy with status epilepticus during slow sleep (ESES)

Bonardi, C. M., Mignot, C., Serratosa, J. M., Giraldez, B. G., Moretti, R., Rudolf, G., Reale, C., Gellert, P. M., Johannesen, K. M., Lesca, G., Tassinari, C. A., Gardella, E., Møller, R. S. & Rubboli, G., May 2020, In : Clinical Neurophysiology. 131, 5, p. 1030-1039

Research output: Contribution to journalJournal articleResearchpeer-review

  • Lessons learned from 40 novel PIGA patients and a review of the literature

    Bayat, A., Knaus, A., Pendziwiat, M., Afenjar, A., Stefan Barakat, T., Bosch, F., Callewaert, B., Calvas, P., Ceulemans, B., Chassaing, N., Depienne, C., Endziniene, M., Ferreira, C. R., Moura de Souza, C. F., Freihuber, C., Ganesan, S., Gataullina, S., Guerrini, R., Guerrot, A-M., Hansen, L. & 34 others, Jezela-Stanek, A., Karsenty, C., Kievit, A., Kooy, F. R., Korff, C. M., Kragh Hansen, J., Larsen, M., Layet, V., Lesca, G., McBride, K. L., Meuwissen, M., Mignot, C., Montomoli, M., Moore, H., Naudion, S., Nava, C., Nougues, M-C., Parrini, E., Pastore, M., Schelhaas, J. H., Skinner, S., Szczałuba, K., Thomas, A., Thomassen, M., Tranebjaerg, L., van Slegtenhorst, M., Wolfe, L. A., Lal, D., Gardella, E., Bomme Ousager, L., Brünger, T., Helbig, I., Krawitz, P. & Møller, R. S., Jun 2020, In : Epilepsia. 61, 6, p. 1142-1155

    Research output: Contribution to journalJournal articleResearchpeer-review

  • Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function

    Zilmer, M., Edmondson, A. C., Khetarpal, S. A., Alesi, V., Zaki, M. S., Rostasy, K., Madsen, C. G., Lepri, F. R., Sinibaldi, L., Cusmai, R., Novelli, A., Issa, M. Y., Fenger, C. D., Jamra, R. A., Reutter, H., Briuglia, S., Agolini, E., Hansen, L., Petäjä-Repo, U. E., Hintze, J. & 12 others, Raymond, K. M., Liedtke, K., Stanley, V., Musaev, D., Gleeson, J. G., Vitali, C., O’Brien, W. T., Gardella, E., Rubboli, G., Rader, D. J., Schjoldager, K. T. & Møller, R. S., 15. Apr 2020, In : Brain. 143, 4, p. 1114-1126

    Research output: Contribution to journalJournal articleResearchpeer-review

  • Recent advances in treatment of epilepsy-related sodium channelopathies

    Musto, E., Gardella, E. & Møller, R. S., Jan 2020, In : European Journal of Paediatric Neurology. 24, p. 123-128

    Research output: Contribution to journalReviewResearchpeer-review

  • Biallelic inherited SCN8A variants, a rare cause of SCN8A-related developmental and epileptic encephalopathy

    Wengert, E. R., Tronhjem, C. E., Wagnon, J. L., Johannesen, K. M., Petit, H., Krey, I., Saga, A. U., Panchal, P. S., Strohm, S. M., Lange, J., Kamphausen, S. B., Rubboli, G., Lemke, J. R., Gardella, E., Patel, M. K., Meisler, M. H. & Møller, R. S., Nov 2019, In : Epilepsia. 60, 11, p. 2277-2285

    Research output: Contribution to journalJournal articleResearchpeer-review